Family-based analysis of GGT1 and HNF1A gene polymorphisms in patients with polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disease. Previous studies indicate that genes GGT1 and HNF1A may contribute to the abnormal glucose metabolism and altered lipid profile that are important clinical features of PCOS. In the current study, the correlation between polymorphisms in the GGT1 and HNF1A genes and PCOS was explored. A total of 310 family trios were studied and the transmission disequilibrium test (TDT) was used to assess the linkage between PCOS and three single-nucleotide polymorphisms (SNP) (rs4820599 of GGT1, rs7305618 and rs2393791 of HNF1A). No deviations from HWE were detected. None of the three SNP markers showed significant transmission disequilibrium in PCOS family trios (rs4820599: GGT1 gene, χ2 = 1.067; rs7305618: HNF1A gene, χ2 = 0.013; rs2393791: HNF1A gene, χ2 = 0.031). In conclusion, no significant evidence supported a relationship between genes GGT1 and HNF1A and PCOS in the current family trios.